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Transaldolase deficiency - natural disease course towards adulthood

Viktoria Bea Horvath1, Konstantinos Tsiakas2, Heiko Brennenstuhl3

  • 1Heidelberg University, Medical Faculty Heidelberg, Center for Pediatric and Adolescent Medicine, Department I, Im Neuenheimer Feld 430, Heidelberg 69120, Germany.

Molecular Genetics and Metabolism
|March 10, 2026
PubMed
Summary

Transaldolase deficiency, a rare metabolic disorder, can present mildly in adults despite early symptoms. Early diagnosis and monitoring are crucial for managing progressive liver, kidney, and endocrine issues.

Keywords:
Acute liver failureChronic kidney diseaseHypergonadotropic hypogonadismPentose phosphate pathwayTALDO1Transaldolase deficiency

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